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Cellosaurus ICANi001-A-1 (CVCL_A5RF)

[Text version]
Cell line name ICANi001-A-1
Synonyms ICANi001-P-40; CDGEN1.16.40.5
Accession CVCL_A5RF
Resource Identification Initiative To cite this cell line use: ICANi001-A-1 (RRID:CVCL_A5RF)
Comments From: INSERM U1166-Institute of Cardiometabolism and Nutrition; Paris; France.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7577; MYH7; Simple_corrected; p.Arg403Leu (c.1208G>T); ClinVar=VCV000014101; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33610018).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A5RE (ICANi001-A)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=33610018; DOI=10.1016/j.scr.2021.102245
Fontaine V., Duboscq-Bidot L., Jouve C., Hamlin M., Curjol A., Briand V., Janiak P., Hulot J.-S., Pruniaux-Harnist M.-P., Charron P., Villard E.
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.
Stem Cell Res. 52:102245-102245(2021)

Cross-references
Cell line databases/resources hPSCreg; ICANi001-A-1
Biological sample resources BioSamples; SAMEA10203005
Encyclopedic resources Wikidata; Q107115416
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6